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What the Rare Disease Community Means to Me

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My husband and I found out we were expecting our first child in March of 2012. We were surprised and shocked and so excited. During those nine months of waiting for our son to be born, we also squeezed in a wedding and a brief honeymoon. It was such an exciting time in our lives and a complete whirlwind. The thought that anything could be wrong with my unborn child never even crossed my mind.

We planned on breastfeeding, only having natural baby products, definitely no co-sleeping, and a minimal amount of wooden toys. Oh man, were we naive. So, so naive!

Silas was born on a sunny day in November. It was a fast and uncomplicated birth that had topped off my totally normal and healthy pregnancy. We had so many warm and cuddly snuggles with our sweet baby boy. Things were perfect! I think at this point many of you might know what’s coming next, the feeling that creeps in as you start to notice or hear things that make you feel a little unsettled. The not-super-obvious red flags that lead you down the road to endless doctors’ appointments, therapies and many tears.

Silas had trouble regulating his body temperature in the hospital and had failed his newborn hearing test three times. We stayed in the hospital for one extra day, until they felt comfortable with his body temperature. He refused to breastfeed, and I felt like a failure as a mom. I had every friend around telling me about lactation consultants and squeezing boobs like hamburgers and “You have to try these cookies, they will solve all of your problems.” Alas, he never got it down and we went to formula. We had sleepless nights, missed milestones, extra amounts of spit-up, and lots of co-sleeping (it’s amazing what you’ll do to get an hour of sleep).

It took hundreds of appointments and three years for us to get a diagnosis. We heard from every specialist that they had no idea what wrong, but they suspected something rare. Towards the end, our geneticist ordered a whole-exome sequence. She gave us a results wait time of four months and a 25 percent chance of getting a diagnosis (in other words, don’t hold your breath). If nothing came of it, she was throwing in the towel and referring us to the NIH. Four months later, we received a magical phone call — he had a diagnosis! We went in for our appointment and she explained that he has ADNP syndrome, and that there were only 13 other people in the world with this diagnosis and exactly three publications. The only thing we learned from that appointment was a name of a diagnosis and nothing new. No prognosis, no “what to expect,” nothing. We were still, essentially, alone. We then found a Facebook group for parents with children with ADNP syndrome, and my life was changed!

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It turns out that Silas was actually the 33rd patient diagnosed. We scoured every post and picture. These kids looked just like Silas and had almost all of the same characteristics. My husband and I were up for hours reading; we felt so much instant camaraderie. We knew right away that we had found a new family, our tribe.

Over the last one and half years, since receiving the diagnosis, we have become actively involved in the rare disease community. We now have 105 patients worldwide in our ADNP community. We have started a foundation for research (ADNP Kids Research Foundation). Many of us have attended rare disease conferences. In September of 2016, five other ADNP mothers and I went to the Global Genes Summit in California. It’s a three-day conference for rare disease patients and patient advocates. We walked in this conference not knowing what to expect and found a home. We were surrounded with hundreds of people who knew exactly what we were going through. I was so amazed and how open people were, how willing and eager to share all they knew with us.

We knew we wanted to start a foundation for research. With such a small patient populations and minimal research out there currently, it’s hard to get funding. We reached out to established foundation members and the staff at Global Genes, the Everylife Foundation, and Rare Disease Legislative Advocates (RDLA). Everyone was so happy to share what they knew with us to make our journey easier. The common phrase we hear around the community is “Why reinvent the wheel if you don’t have to.” We are so thankful we didn’t have to reinvent anything. We have been able to lean on and get support from so many other rare disease advocates.

This community has been like nothing I’ve ever known. It has transformed the way I interact with people in my life. It has inspired me to fight and advocate for not only my child, but all rare disease patients. I have been given a voice and intend to do everything I can to shine a light on rare diseases. I feel honored every day to serve this cause alongside so many selfless and passionate people.

The rare disease community has given me light where there was darkness and grief. Hope where there was despair. Knowledge where there was confusion and loss. Courage and a voice where there was silence and fear. But most importantly, a big giant family where there was no one. I am forever grateful for this community and their love.

Visit ADNP Kids here.

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What It's Like to Hear a Geneticist Say, 'It's Never Been Seen Before'

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“It’s never been seen before,” the geneticist told my husband and I with a faint grin. I could tell that for someone in his profession, he was trying to contain his excitement.

We had been on the journey for my daughter’s diagnosis for 18 months now. She was about to turn 3, and we finally had an answer. She had a genetic mutation on the SHANK2 gene that had never been seen in anyone in the world, ever.

I immediately had mixed emotions. So it wasn’t Rett syndrome, Angelman syndrome, or something else. It was this. “Which is what now?” I thought to myself, waiting for an explanation. However, all I got was, “We don’t know” and “Time will tell.”

Just as we were about to leave, the senior doctor (one of many we had seen in the three-hour appointment) told us, “Well, you thought today would mark the end of a journey, but really it’s just begun.” The more I think about that statement the more I realize how true it is.

With every other possible diagnosis we had come across, there were others. There were support groups, message boards, books, blog posts, articles, Facebook groups, and studies. But with this, we were alone. There was no “What to Expect” book. There was no other parent to contact. There is no doctor who specializes in it. It’s just us. We are alone. Completely alone.

The genetics doctors have decided to publish an article about my daughter in medical journals, giving me some hope that we will find someone else in the future. For now, we watch and wait. We wait to see if she will thrive or develop more problems.

Right now we know she is completely nonverbal, has receptive language disturbances, low tone, loose joints, sensory processing disorder, autism spectrum disorder, and visual processing issues. I want her to stay right where she is, and for my brain, the fear of the unknown can be unbearable.

Will she develop heart problems or scoliosis? Will she have regression? What about seizures? Does she understand what I’m saying to her? Will she ever speak my name? I long to have her run up to me with a hug and exclamation of “Mama!” Time will tell if I will ever get my wish. While I wait, I try. I try everything. Maybe pictures will be her way of speaking or perhaps sign language. We jump headfirst into every angle hoping it could lead to a breakthrough.

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She continues to surprise me with her zest for life and unique understanding of the world around her. She loves with her whole heart, and that love exudes from her smile. If you meet her, you are forever changed for the better, and I’m so lucky to have been given the gift of being her mama.

While I am completely alone in the world, it doesn’t matter to me. I have her and she is all this mama needs.

Follow this journey on Difficult Mommy.

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How I've Found True Friendship Living With a Rare Disease

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When I think of friendship, I usually think of the people in my life who have seen me through thick and thin. The people who perhaps I have grown up with, gone to school or university with, traveled with, played sports with or worked with for years. I think of the people who I hope will always be there for me.

The truth is friends often come and go. Sometimes that’s because we have relocated or had a difference in opinion or have just naturally grown apart. We grow up, we change, we get married, have kids and often find new friends. The memories of special friendships stay with me though, as a photograph album in my mind to look back when I want to be reminded of happy times spent together.

Sometimes, health issues can remove us from a “normal” social life that is often necessary to hold friendships together. Sometimes health can get so complex, friends no longer know what to say or what to ask. Maybe they feel so distressed about what is happening to us it becomes easier to slowly let the friendship slip. We might think it sounds terrible but I believe it’s also understandable.

Chronic disease changes everything, for everyone. Just like other life changing moments can do.

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I’ve learned that as new life evolves for a person with chronic disease — around medical appointments and accepting new ways of living with a disability — some beautiful friends remain but more than likely, new friendships will emerge. If we let them.

As someone with a chronic disease, it could be easy to feel as if you have been treated unfairly, and that response is also completely understandable. Life is often changing at an accelerating rate. Let’s face it, life with chronic disease changes your life forever.

I believe it is important to grieve over friendships that are drifting or are lost. That grief process is necessary, but I also believe once we have done the grieving, there comes a time to reach out and connect again — within our new limitations and with new expectations of ourselves and others.

I’ve been involved with online support groups for two years as an administrator. My aim in these groups is always to help others. It’s something I love to do and I feel it gives me purpose. It helps me make sense of this new phase of my life, this whole new world where I am daily finding ways to live anew with complex diseases. The unexpected outcome from being involved with these online groups is the friendships I’ve seen blossom among two people or groups of people. Friendships that have leaped out of the Facebook forum arena into coffee shops and home visits or regular phone calls and emails. The added bonus for me has not only been connecting others, but also finding my own connections with like-minded beautiful people who I now call “true friends.”

“Friendship is born at that moment when one person says to another, “What! You too? I thought I was the only one.”  – CS Lewis.

If you’re looking for genuine support, care, understanding and friendship, you are welcome to join my closed Facebook support forum, “Medical Musings with Friends.” It’s a safe place to connect with others living with chronic and complex diseases. People who truly understand the daily challenges.  A warm welcome awaits.

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Our Family's Journey So Far With a HIVEP2 Gene Mutation

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My family is on a journey I didn’t expect to take, and a foundation of hope has been my north star. Our journey can be inspiring but also many times daunting, and if we become hopeless we will lose our way. I would like to honor my son by sharing part of his journey.

Curren has been seen by five neurologists, four geneticists, a neurogeneticist, two developmental specialists, a GI specialist, an ENT specialist, two ophthalmologists, a orthopedist, two othotists, a podiatrist, two psychologists, two pediatricians, four physical therapists, two occupational therapists, and two speech therapists; this has all been in the first three years of life. Beginning about two years ago, Curren ramped up therapy to five days a week, sometimes up to four hours in one day. He is a tough cookie, and he works hard every day. Sometimes he forgets how to do the things he learns, but Curren never gives up.

Curren was born with a mutation in his HIVEP2 gene, but he was not diagnosed until he was 2 years old, after a long diagnostic journey. When reviewing his birth records, I noticed they recorded abnormal hypotonic behavior and muscular tone upon his first evaluation, but it was actually Curren’s daycare that told me his muscle tone was not “normal” four months later. Between his low tone and difficulty with brain signaling, Curren has a hard time controlling movement, especially in his legs. And although his muscles are strong enough to do it, Curren hasn’t been able to crawl, pull up, or walk yet. He is, however, doing fantastic in his new wheelchair, and we are planning to get a mobile stander which supports Curren in a standing position but has wheels like a wheelchair so he can move around and be at the level of his peers. Many people ask if Curren will ever walk, and it’s a challenging question to answer. There is no way to know, but I have hope that he will.

We have been blessed with good health over the past year, but that wasn’t always the case. Curren was first sick when he was 4 weeks old and was on antibiotics over 20 times during the first year and a half of life. He was diagnosed with reactive airway disorder at 4 months old, when he was in the hospital for respiratory distress. Curren also experienced a seizure and metabolic crisis event when he was 2. Many of the other children with HIVEP2 disorder experience GI issues, but the only problem we have experienced is a “failure to thrive” diagnosis based on Curren’s slow growth. We are also fortunate so far to have good reports from the ophthalmologist, as eye problems are common for our community.

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Like many others with HIVEP2, Curren is on the autism spectrum. He is motivated by social experiences but experiences regressions, language disorder, sensory integration disorder, and obsessive-compulsive disorder. Curren is nonverbal, and it is so difficult for a child who has so much to say to not be able to say any of it out loud. He understands what is going on around him, and he has intent for his legs, hands, and mouth to do certain things, but the message seems to get scrambled and the action doesn’t happen the way it should. Lately, I ask Curren to touch his head (which is actually challenging for him since he can’t see it) and he starts clapping. I can tell from the look on his face that he is not thinking about clapping and is confused why his hands aren’t touching his head, but the directions from his brain don’t seem to be delivering the right message. I see this also in his speech. Once when we were in the hospital, and he was over it, he said clear as day, “all done” but hasn’t said it again in over a year. I can’t imagine the frustration to have this disconnect between your brain and your body, but my son handles it incredibly.

On this journey, we have seen such kindness and compassion. It is so heartwarming to see Curren’s fans, rooting for him to not give up. Curren has an exceptional team of professionals caring for him and looking for answers. We are eternally grateful to the doctors and therapists that are making a difference in Curren’s life. It is not always an easy journey, but the people who support Curren do make hope feel more grounded. I am also so very proud of my son for the tremendous effort he puts forth and for his beautiful spirit that has not been subdued. I have hope for the future and what it holds!

Follow this journey on Hope for HIVEP2.

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When I Couldn't Find My Daughter With Truncus Arteriosus at a Swim Meet

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February 7-14 is CHD Awareness Week — a week that rides on the coattails of Heart Month, Heart Awareness Month, Wear Red Week, CHD Awareness Month and many other names for February. February has become the month for everything heart-related, for obvious reasons. Thinking about this compelled me to write something in honor of our own heart warrior, our youngest daughter. But, what could I say exactly? When I spoke to my husband about it, we both agreed. Sometimes it’s the aftermath that sticks with us. Sometimes the residual, the leftovers, the stuff around the edges, is the part we still struggle with.

Like when this happened…

We were at a swim meet, which is not unusual. We had been to many meets before, more than I want to count. It can be challenging to keep a positive attitude while sweating out of every pore of your body. You have to learn how to sit next to water but not actually participate by getting in the water. It can do funny things to your brain. Just ask any swim parent.

In the past, I would chase down my kids and let’s be honest… hover… to make sure they were actually in the right place at the right time so they could achieve the glory of swimming in a 30-second race. Lately, they have both grown old enough to keep track of their own events. My daughters had earned the right of responsibility, and I had been lulled into a new sense of freedom. I let them go and do their thing, while I was suddenly free to do other things like volunteer to help organize the new timing system. It’s because I was volunteering that I was watching the meet so closely. It’s because I was volunteering that I ended up looking up at the blocks… and then down at my heat sheet… and then up at the blocks… and then down to my heat sheet… and then… with a sick feeling in the pit of my stomach, I realized what I saw written on the page did not match the swimmers lined up for the race. One swimmer was missing. My youngest daughter was missing.

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The anxiety washed over me like a waterfall. I was frozen.

I had just seen her. It had been a mere matter of seconds since she told me how much she was excited about getting to swim in this race. It was totally unlike her to forget. She’s usually that swimmer who lines up at the blocks early. She’s usually anxiously awaiting her turn. So, where was she?

As the panic began to rise, the bile in my throat made me feel like I was going to puke. I couldn’t seem to suck in a full breath. Relax. Breathe. I told myself. Run through the possible scenarios.

If she had left the pool area she would have told me. She doesn’t wander, and she’s not the kind of kid who would run away. OK, move on.

If she had been taken, someone would have seen it happen. She was with her friends. They would have said something. OK, move on.

If she had gotten sick, someone would have noticed. Again, she was with her friends. They would have found me and told me. OK, move on.

So, where? Where was she?

After what seemed like forever, finally, I saw her. She was at the other end of the pool by the concession stand. She was with her friends. Laughing. Having fun. She had no idea what had happened. She had simply gotten distracted.

OK. Deep breath. It’s going to be OK.

Except it wasn’t OK. Not really. It’s never, ever completely OK.

That little girl is more than my daughter, more than my genetic reproduction. She’s my medical miracle. My heart warrior.

Every day that she wakes up and says good morning is one more day marked in the “I can’t believe she has made it this far” book. Every moment is another moment I almost wasn’t given. Every question she asks over and over, every time she rolls her eyes, and every time she gets sassy, is another moment I was never promised. Every hug, every kiss, every tear is a second chance to love the baby who almost wasn’t. I can’t think about it all. I can’t not think about it all. It makes life here in the “normal” difficult to process.

As a family, we’ve fought the war of survival. We’ve battled the anxiety and fear. We’ve earned our scars. On most days, we’ve already won. We fight. In that, we’ve already received our trophy. We’ve already been accepted into the club.

It can be invigorating. It can be exhausting.

Somewhere inside of all that invigorating exhaustion is exactly where I discovered that missing one race is not the same as missing her life.

She had missed the race, yes, but she was having fun. She had missed a race, yes, but she was also, finally, confident enough to explore on her own… without clinging to me. She had missed the race, yes, but she was happy, secure, and surrounded by friends. Who wouldn’t want that?

Sure, she made a mistake. She had even let the team down, but I didn’t need to scold her. Once she realized what had happened, she felt terrible. There was nothing I could say to her that she wasn’t already saying to herself. She’s the kind of kid who probably won’t ever do it again. At least not if she can help it.

Guess what? Kids make mistakes. Kids get distracted. Even medical miracles. In my anguish of fear and anxiety, I had forgotten to consider, maybe she had just screwed up. Maybe, she had just acted like an 11-year-old. Maybe, she was being “normal.” The crowd was so big, the meet was so chaotic, and my panic was so distracting that it kept me from seeing what was completely obvious. She was just a kid being a kid.

No matter what our particular situations may be, I think as moms we can all agree that anxiety and fear come with the territory. I think we all agree that our children are never far from our minds or our hearts. It’s more than a knee-jerk response. It’s like smelly leftovers from a meal you didn’t want in the first place. Something like garlic asparagus or kimchi. It’s the kind of gift that keeps on giving. But just because my panic is justified, earned even, it doesn’t make it healthy.

That day at the pool, it only took two minutes to find her. Only two minutes had passed between the panic and the relief. Two minutes that of course took another two months off my life. That’s the price I pay for being a mother. It’s also a small price to pay.

The weight of illness at times surrounds me, engulfs me, and brings me to my knees. Occasionally, especially once I have recovered from my mommy-induced panic, I can see that’s not necessarily a bad place to be. From down low, the best thing I can do for myself and for my heart warrior, is look up.

©2017 Betts Keating. All rights reserved.

Betts Keating is the author of My Movie Memoir Screenplay Novel, a memoir and a movie screenplay all rolled into one book. She lives in the Charleston, SC, area with her husband two daughters, the youngest of which has truncus arteriosus.

Follow this journey here.

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The Power of Kindness for a Person With Rare Disease

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Our culture obsesses over the “perfect” physical body, so it’s no surprise to those of us who endure rare disease that kindness is often not the response we usually expect or receive when people ask us about our health and bodies, or about the health and bodies of our children with rare disease.

During this current Passover, my husband and I were so thankful for unexpected acts of kindness since I battle a rare neuromuscular disease and am just out of surgery. Some friends surprised us with grocery deliveries, but they quickly departed when we invited them in to chat or even to eat with us. We are keenly aware my rare disease, SPS, makes folks nervous and anxious, and the cause of their feelings is too often judgment. Three dear friends remembered us and sent cards with generous gifts inside, and we never expected those acts of kindness.

My husband received an email at work from a colleague that was a blindside in the midst of the kind acts we just received. This colleague wrote I should call her church’s prayer line for healing and included the number and promotion of her church. This was unsolicited and in the knowledge we are Jewish. Rare disease patients have to hear this “better pray it away” commentary too frequently. It simply feels absent of heart. Ironically, this colleague had been the recipient of my husband’s kindness and help at work and yet, he had to encounter this again. His response was “thank you, but we have a direct line to God.” No reply, of course.

This “prayers for you” approach is utilized too often as an excuse not to do anything for people who are struggling or sick with incurable rare disease, who maybe need your help but sense they would regret asking you for it. I believe genuine prayer is a beautiful and powerful gift. I just have to say it is too sacred to be an excuse not to really do anything for the most ignored and neglected in our society, especially rare disease patients. The presumed or forced Christianity also is unkind, particularly if folks know you hold a different faith or your own spirituality or none at all. Spirituality helps a lot of rare disease warriors and I believe kindness is an act or actions, not only a prayer or a prayer intended to dismiss our struggling so that nothing else is needed.

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Throughout Passover and this Easter Sunday, please consider what true kindness means. Remember it can be the profound difference in the lives of rare disease patients and their families who battle every day without much medical help or hope. My husband embodies kindness. He will drop everything to assist me with anything, particularly after surgery on top of my rare neuromuscular disease struggling. I do the same for him, no matter what. We are a team, and we believe in the tremendous gift of kindness. We have been very fortunate to receive acts of kindness and to be able to offer them.

Kindness is not owned by any religion or any one person. It is a potent force of goodness inside each of us. I regret being so incurably ill that I cannot give more, do more, help others more, live out my kindness more. I realize it’s because as a rare disease patient out of surgery and heading into my next procedure, I need to give kindness to myself, especially in a world that is often hostile or indifferent to disabled rare disease warriors. It is vital we give kindness to ourselves! We struggle enough with our diseases, the battle of treatments and from the cruelty of others. All the more reason we need to cultivate self-care, self-love and compassion for ourselves. It is an ongoing practice to be kind to yourself when you are incurably ill. Without offering kindness to ourselves, negativity feeds off of our illness and isolation.

This does not mean the people in your life should not step up and do right by you. It means we remember to act kindly with ourselves in a culture regularly downright violent to disabled rare disease patients, stories we see daily on local and national news. However, we also see beautiful stories of breathtaking goodness toward rare disease adults and children. These selfless actions change lives forever. Kindness is positive action. It dispels nastiness. It has the power to transform a family’s or an individual’s most horrific time into a time of strength with the loving help of people who care.

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